Nadine Hanna

Nadine Hanna

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Nadine Hanna

Nadine Hanna

Publications by authors named "Nadine Hanna"

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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Hum Genet 2020 Jan 24. Epub 2020 Jan 24.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, 14, Rue Gaffarel, 21079, Dijon Cedex, France.

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http://dx.doi.org/10.1007/s00439-019-02102-9DOI Listing
January 2020

Reference Expression Profile of Three Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome.

Genes (Basel) 2019 02 11;10(2). Epub 2019 Feb 11.

Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.3390/genes10020128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409622PMC
February 2019

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression.

Genes (Basel) 2018 Aug 21;9(9). Epub 2018 Aug 21.

Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.3390/genes9090421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162465PMC
August 2018

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

J Med Genet 2017 02 31;54(2):100-103. Epub 2016 Aug 31.

Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-103996DOI Listing
February 2017

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.

Hum Mol Genet 2015 May 4;24(10):2764-70. Epub 2015 Feb 4.

National Reference Centre for Marfan Syndrome and Related Disorders, Service de Cardiologie, Centre Hospitalier Universitaire Xavier Bichat, Assistance Publique Hôpitaux de Paris, 75018 Paris, France,

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http://dx.doi.org/10.1093/hmg/ddv037DOI Listing
May 2015

A case of rheumatoid arthritis associated with SMAD3 gene mutation: a new clinical entity?

J Rheumatol 2015 Mar;42(3):556

CHU Clermont Ferrand, Rheumatology, Clermont Ferrand, France.

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http://dx.doi.org/10.3899/jrheum.140645DOI Listing
March 2015

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Am J Hum Genet 2014 Dec 26;95(6):736-43. Epub 2014 Nov 26.

INSERM U1148, Laboratory for Vascular Translational Science, Hôpital Bichat, Université Paris Diderot, Sorbonne Paris Cité, 75018 Paris, France; AP-HP, Département de Génétique, Hôpital Bichat, 75018 Paris, France; AP-HP, Centre de référence pour les syndromes de Marfan et apparentés, Service de Cardiologie, Hôpital Bichat, 75018 Paris, France; UFR de Médecine, Université Paris Diderot, 75018 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259978PMC
December 2014

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?

Am J Med Genet A 2012 May 9;158A(5):1185-9. Epub 2012 Apr 9.

Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://doi.wiley.com/10.1002/ajmg.a.35279
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http://dx.doi.org/10.1002/ajmg.a.35279DOI Listing
May 2012

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Am J Med Genet A 2011 May 11;155A(5):1178-83. Epub 2011 Apr 11.

Department of Medical Genetics, Université Paris Descartes, INSERM U, Hôpital Necker-Enfants Malades, France.

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http://dx.doi.org/10.1002/ajmg.a.33813DOI Listing
May 2011

Plasma proteome to look for diagnostic biomarkers of early bacterial sepsis after liver transplantation: a preliminary study.

Anesthesiology 2010 Apr;112(4):926-35

Department of Anesthesiology and Critical Care, University Hospital, Assistance Publique-Hôpitaux de Paris, Hôpital Beaujon, Bd du Général Leclerc, Clichy, France.

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http://dx.doi.org/10.1097/ALN.0b013e3181d049f0DOI Listing
April 2010

Gene symbol: MAP2K2. Disease: Cardio-Facio-Cutaneous syndrome.

Hum Genet 2008 Jun;123(5):543

InsermU745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Avenue de l’observatoire,4, 75006, Paris, France.

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June 2008

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

FEBS Lett 2006 May 12;580(10):2477-82. Epub 2006 Apr 12.

INSERM U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université René Descartes 4 avenue de l'Observatoire, 75270 Paris Cedex 06, France.

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http://dx.doi.org/10.1016/j.febslet.2006.03.088DOI Listing
May 2006

[Mutation mechanisms and their consequences].

Med Sci (Paris) 2005 Nov;21(11):969-80

Laboratoire de Génétique Moléculaire EA 3618, Université René Descartes Paris 5, Faculté des Sciences Pharmaceutiques et Biologiques, 4, avenue de l'Observatoire, 75006 Paris, France.

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http://dx.doi.org/10.1051/medsci/20052111969DOI Listing
November 2005